Documentos de Orange J.S. | REDI

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Área de conocimiento: "Medicina interna"

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Frontiers in Pediatrics(1)

Área temáticas

Enfermedades(1)

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Inmunología(1)

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Histoplasmosis(1)

Hyper-IgM syndrome(1)

Primary immunodeficiency diseases(1)

Whole exome sequencing(1)

First case of CD40LG deficiency in Ecuador, diagnosed after whole exome sequencing in a patient with Severe Cutaneous Histoplasmosis

Abstract: Severe infections with Histoplasma capsulatumare commonly observed in patient with secondary immunod

Palabras claves:

CD40LG, Histoplasmosis, Hyper-IgM syndrome, Primary immunodeficiency diseases, Whole exome sequencing

Akdemir Z.C., Chinn I.K., Jhangiani S.N., Luis Alberto Pedroza, Lupski J.R., Muñoz G., Nina Guerrero, Orange J.S., Roque Macias, Stray-Pedersen A., Tafur C., Watkin L.B.